Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865097

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs281865097(-;T)
Make rs281865097(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position26479339
GeneHPS4
is asnp
is mentioned by
dbSNPrs281865097
dbSNP (classic)rs281865097
ClinGenrs281865097
ebirs281865097
HLIrs281865097
Exacrs281865097
Gnomadrs281865097
Varsomers281865097
LitVarrs281865097
Maprs281865097
PheGenIrs281865097
Biobankrs281865097
1000 genomesrs281865097
hgdprs281865097
ensemblrs281865097
geneviewrs281865097
scholarrs281865097
googlers281865097
pharmgkbrs281865097
gwascentralrs281865097
openSNPrs281865097
23andMers281865097
SNPshotrs281865097
SNPdbers281865097
MSV3drs281865097
GWAS Ctlgrs281865097
Max Magnitude0
ClinVar
Risk rs281865097(T;T)
Alt rs281865097(T;T)
Reference Rs281865097(-;-)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 4
Variation info
Gene HPS4
CLNDBN Hermansky-Pudlak syndrome 4
Reversed 1
HGVS NC_000022.10:g.26875306dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020874.1,